L66V (p.Leu66Val) variant of CHD7 (Q9P2D1)
L66V (p.Leu66Val) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L66V (p.Leu66Val) variant details
- p.Leu66Val
- gnomAD 8-60741628-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.19
- MetaLR 0.09
- MetaSVM -1.00
- CADD 6.30
- PolyPhen-2 0.26
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available